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"NP_000395.2:p.Tyr57_Val677delinsSerArgValProArgPheTyrTrpLysAspArgLeuLeuLysMetLysMetAlaGlyLeuAsnAlaIleGlnThrTyrValProTrpAsnPheHisGluProTrpProGlyGlnTyrGlnPheSerGluAspHisAspValGluTyrPheLeuArgLeuAlaHisGluLeuGlyLeuLeuValIleLeuArgProGlyProTyrIleCysAlaGluTrpGluMetGlyGlyLeuProAlaTrpLeuLeuGluLysGluSerIleLeuLeuArgSerSerAspProAspTyrLeuAlaAlaValAspLysTrpLeuGlyValLeuLeuProLysMetLysProLeuLeuTyrGlnAsnGlyGlyProValIleThrValGlnValGluAsnGluTyrGlySerTyrPheAlaCysAspPheAspTyrLeuArgPheLeuGlnLysArgPheArgHisHisLeuGlyAspAspValValLeuPheThrThrAspGlyAlaHisLysThrPheLeuLysCysGlyAlaLeuGlnGlyLeuTyrThrThrValAspPheGlyThrGlySerAsnIleThrAspAlaPheLeuSerGlnArgLysCysGluProLysGlyProLeuIleAsnSerGluPheTyrThrGlyTrpLeuAspHisTrpGlyGlnProHisSerThrIleLysThrGluAlaValAlaSerSerLeuTyrAspIleLeuAlaArgGlyAlaSerValAsnLeuTyrMetPheIleGlyGlyThrAsnPheAlaTyrTrpAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValArgSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysGlyGlnValTrpIleAsnGlyPheAsnLeuGlyArgTyrTrpProAlaArgGlyProGlnLeuThrLeuPheValProGlnHisIleLeuMetThrSerAlaProAsnThrIleThrValLeuGluLeuGluTrpAlaProCysSerSerAspAspProGluLeuCysAlaValThrPheValAspArgProValIleGlySerSerValThrTyrAspHisProSerLysProValGluLysArgLeuMetProProProProGlnLysAsnLysAspSerTrpLeuAspHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006465" }, { "@id": "http://reg.genome.network/allele/PA201541", "coordinates": [ { "allele": "G", "end": 316, "referenceAllele": "C", "start": 315 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_000404.3:c.171C>G" ], "proteinEffect": { "hgvs": "NP_000395.2:p.Tyr57Ter", "hgvsWellDefined": "NP_000395.2:p.Tyr57_Val677delinsSerArgValProArgPheTyrTrpLysAspArgLeuLeuLysMetLysMetAlaGlyLeuAsnAlaIleGlnThrTyrValProTrpAsnPheHisGluProTrpProGlyGlnTyrGlnPheSerGluAspHisAspValGluTyrPheLeuArgLeuAlaHisGluLeuGlyLeuLeuValIleLeuArgProGlyProTyrIleCysAlaGluTrpGluMetGlyGlyLeuProAlaTrpLeuLeuGluLysGluSerIleLeuLeuArgSerSerAspProAspTyrLeuAlaAlaValAspLysTrpLeuGlyValLeuLeuProLysMetLysProLeuLeuTyrGlnAsnGlyGlyProValIleThrValGlnValGluAsnGluTyrGlySerTyrPheAlaCysAspPheAspTyrLeuArgPheLeuGlnLysArgPheArgHisHisLeuGlyAspAspValValLeuPheThrThrAspGlyAlaHisLysThrPheLeuLysCysGlyAlaLeuGlnGlyLeuTyrThrThrValAspPheGlyThrGlySerAsnIleThrAspAlaPheLeuSerGlnArgLysCysGluProLysGlyProLeuIleAsnSerGluPheTyrThrGlyTrpLeuAspHisTrpGlyGlnProHisSerThrIleLysThrGluAlaValAlaSerSerLeuTyrAspIleLeuAlaArgGlyAlaSerValAsnLeuTyrMetPheIleGlyGlyThrAsnPheAlaTyrTrpAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValArgSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysGlyGlnValTrpIleAsnGlyPheAsnLeuGlyArgTyrTrpProAlaArgGlyProGlnLeuThrLeuPheValProGlnHisIleLeuMetThrSerAlaProAsnThrIleThrValLeuGluLeuGluTrpAlaProCysSerSerAspAspProGluLeuCysAlaValThrPheValAspArgProValIleGlySerSerValThrTyrAspHisProSerLysProValGluLysArgLeuMetProProProProGlnLysAsnLysAspSerTrpLeuAspHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006466" }, { "coordinates": [ { "allele": "G", "end": 200, "referenceAllele": "C", "start": 199 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001079811.1:c.81C>G" ], "proteinEffect": { "hgvs": "NP_001073279.1:p.Tyr27Ter", "hgvsWellDefined": "NP_001073279.1:p.Tyr27_Val647delinsSerArgValProArgPheTyrTrpLysAspArgLeuLeuLysMetLysMetAlaGlyLeuAsnAlaIleGlnThrTyrValProTrpAsnPheHisGluProTrpProGlyGlnTyrGlnPheSerGluAspHisAspValGluTyrPheLeuArgLeuAlaHisGluLeuGlyLeuLeuValIleLeuArgProGlyProTyrIleCysAlaGluTrpGluMetGlyGlyLeuProAlaTrpLeuLeuGluLysGluSerIleLeuLeuArgSerSerAspProAspTyrLeuAlaAlaValAspLysTrpLeuGlyValLeuLeuProLysMetLysProLeuLeuTyrGlnAsnGlyGlyProValIleThrValGlnValGluAsnGluTyrGlySerTyrPheAlaCysAspPheAspTyrLeuArgPheLeuGlnLysArgPheArgHisHisLeuGlyAspAspValValLeuPheThrThrAspGlyAlaHisLysThrPheLeuLysCysGlyAlaLeuGlnGlyLeuTyrThrThrValAspPheGlyThrGlySerAsnIleThrAspAlaPheLeuSerGlnArgLysCysGluProLysGlyProLeuIleAsnSerGluPheTyrThrGlyTrpLeuAspHisTrpGlyGlnProHisSerThrIleLysThrGluAlaValAlaSerSerLeuTyrAspIleLeuAlaArgGlyAlaSerValAsnLeuTyrMetPheIleGlyGlyThrAsnPheAlaTyrTrpAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValArgSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysGlyGlnValTrpIleAsnGlyPheAsnLeuGlyArgTyrTrpProAlaArgGlyProGlnLeuThrLeuPheValProGlnHisIleLeuMetThrSerAlaProAsnThrIleThrValLeuGluLeuGluTrpAlaProCysSerSerAspAspProGluLeuCysAlaValThrPheValAspArgProValIleGlySerSerValThrTyrAspHisProSerLysProValGluLysArgLeuMetProProProProGlnLysAsnLysAspSerTrpLeuAspHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010094" }, { "coordinates": [ { "allele": "G", "end": 210, "referenceAllele": "C", "start": 209 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001079811.2:c.81C>G" ], "proteinEffect": { "hgvs": "NP_001073279.1:p.Tyr27Ter", "hgvsWellDefined": "NP_001073279.1:p.Tyr27_Val647delinsSerArgValProArgPheTyrTrpLysAspArgLeuLeuLysMetLysMetAlaGlyLeuAsnAlaIleGlnThrTyrValProTrpAsnPheHisGluProTrpProGlyGlnTyrGlnPheSerGluAspHisAspValGluTyrPheLeuArgLeuAlaHisGluLeuGlyLeuLeuValIleLeuArgProGlyProTyrIleCysAlaGluTrpGluMetGlyGlyLeuProAlaTrpLeuLeuGluLysGluSerIleLeuLeuArgSerSerAspProAspTyrLeuAlaAlaValAspLysTrpLeuGlyValLeuLeuProLysMetLysProLeuLeuTyrGlnAsnGlyGlyProValIleThrValGlnValGluAsnGluTyrGlySerTyrPheAlaCysAspPheAspTyrLeuArgPheLeuGlnLysArgPheArgHisHisLeuGlyAspAspValValLeuPheThrThrAspGlyAlaHisLysThrPheLeuLysCysGlyAlaLeuGlnGlyLeuTyrThrThrValAspPheGlyThrGlySerAsnIleThrAspAlaPheLeuSerGlnArgLysCysGluProLysGlyProLeuIleAsnSerGluPheTyrThrGlyTrpLeuAspHisTrpGlyGlnProHisSerThrIleLysThrGluAlaValAlaSerSerLeuTyrAspIleLeuAlaArgGlyAlaSerValAsnLeuTyrMetPheIleGlyGlyThrAsnPheAlaTyrTrpAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValArgSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysGlyGlnValTrpIleAsnGlyPheAsnLeuGlyArgTyrTrpProAlaArgGlyProGlnLeuThrLeuPheValProGlnHisIleLeuMetThrSerAlaProAsnThrIleThrValLeuGluLeuGluTrpAlaProCysSerSerAspAspProGluLeuCysAlaValThrPheValAspArgProValIleGlySerSerValThrTyrAspHisProSerLysProValGluLysArgLeuMetProProProProGlnLysAsnLysAspSerTrpLeuAspHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010095" }, { "@id": "http://reg.genome.network/allele/PA915977054", "coordinates": [ { "allele": "G", "end": 288, "referenceAllele": "C", "start": 287 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001135602.1:c.171C>G" ], "proteinEffect": { "hgvs": "NP_001129074.1:p.Tyr57Ter", "hgvsWellDefined": "NP_001129074.1:p.Tyr57_Val546delinsSerArgValProArgPheTyrTrpLysAspArgLeuLeuLysMetLysMetAlaGlyLeuAsnAlaIleGlnThrLeuProGlySerCysGlyGlnValValGlySerProSerAlaGlnAspGluAlaSerProLeuSerGluTrpArgAlaSerTyrAsnSerAlaGlySerAsnIleThrAspAlaPheLeuSerGlnArgLysCysGluProLysGlyProLeuIleAsnSerGluPheTyrThrGlyTrpLeuAspHisTrpGlyGlnProHisSerThrIleLysThrGluAlaValAlaSerSerLeuTyrAspIleLeuAlaArgGlyAlaSerValAsnLeuTyrMetPheIleGlyGlyThrAsnPheAlaTyrTrpAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValArgSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysGlyGlnValTrpIleAsnGlyPheAsnLeuGlyArgTyrTrpProAlaArgGlyProGlnLeuThrLeuPheValProGlnHisIleLeuMetThrSerAlaProAsnThrIleThrValLeuGluLeuGluTrpAlaProCysSerSerAspAspProGluLeuCysAlaValThrPheValAspArgProValIleGlySerSerValThrTyrAspHisProSerLysProValGluLysArgLeuMetProProProProGlnLysAsnLysAspSerTrpLeuAspHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012431" }, { "@id": "http://reg.genome.network/allele/PA915977054", "coordinates": [ { "allele": "G", "end": 316, "referenceAllele": "C", "start": 315 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001135602.2:c.171C>G" ], "proteinEffect": { "hgvs": "NP_001129074.1:p.Tyr57Ter", "hgvsWellDefined": "NP_001129074.1:p.Tyr57_Val546delinsSerArgValProArgPheTyrTrpLysAspArgLeuLeuLysMetLysMetAlaGlyLeuAsnAlaIleGlnThrLeuProGlySerCysGlyGlnValValGlySerProSerAlaGlnAspGluAlaSerProLeuSerGluTrpArgAlaSerTyrAsnSerAlaGlySerAsnIleThrAspAlaPheLeuSerGlnArgLysCysGluProLysGlyProLeuIleAsnSerGluPheTyrThrGlyTrpLeuAspHisTrpGlyGlnProHisSerThrIleLysThrGluAlaValAlaSerSerLeuTyrAspIleLeuAlaArgGlyAlaSerValAsnLeuTyrMetPheIleGlyGlyThrAsnPheAlaTyrTrpAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValArgSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysGlyGlnValTrpIleAsnGlyPheAsnLeuGlyArgTyrTrpProAlaArgGlyProGlnLeuThrLeuPheValProGlnHisIleLeuMetThrSerAlaProAsnThrIleThrValLeuGluLeuGluTrpAlaProCysSerSerAspAspProGluLeuCysAlaValThrPheValAspArgProValIleGlySerSerValThrTyrAspHisProSerLysProValGluLysArgLeuMetProProProProGlnLysAsnLysAspSerTrpLeuAspHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012432" }, { "coordinates": [ { "allele": "G", "end": 460, "referenceAllele": "C", "start": 459 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001317040.1:c.315C>G" ], "proteinEffect": { "hgvs": "NP_001303969.1:p.Tyr105Ter", "hgvsWellDefined": "NP_001303969.1:p.Tyr105_Val725delinsSerArgValProArgPheTyrTrpLysAspArgLeuLeuLysMetLysMetAlaGlyLeuAsnAlaIleGlnThrTyrValProTrpAsnPheHisGluProTrpProGlyGlnTyrGlnPheSerGluAspHisAspValGluTyrPheLeuArgLeuAlaHisGluLeuGlyLeuLeuValIleLeuArgProGlyProTyrIleCysAlaGluTrpGluMetGlyGlyLeuProAlaTrpLeuLeuGluLysGluSerIleLeuLeuArgSerSerAspProAspTyrLeuAlaAlaValAspLysTrpLeuGlyValLeuLeuProLysMetLysProLeuLeuTyrGlnAsnGlyGlyProValIleThrValGlnValGluAsnGluTyrGlySerTyrPheAlaCysAspPheAspTyrLeuArgPheLeuGlnLysArgPheArgHisHisLeuGlyAspAspValValLeuPheThrThrAspGlyAlaHisLysThrPheLeuLysCysGlyAlaLeuGlnGlyLeuTyrThrThrValAspPheGlyThrGlySerAsnIleThrAspAlaPheLeuSerGlnArgLysCysGluProLysGlyProLeuIleAsnSerGluPheTyrThrGlyTrpLeuAspHisTrpGlyGlnProHisSerThrIleLysThrGluAlaValAlaSerSerLeuTyrAspIleLeuAlaArgGlyAlaSerValAsnLeuTyrMetPheIleGlyGlyThrAsnPheAlaTyrTrpAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValArgSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysGlyGlnValTrpIleAsnGlyPheAsnLeuGlyArgTyrTrpProAlaArgGlyProGlnLeuThrLeuPheValProGlnHisIleLeuMetThrSerAlaProAsnThrIleThrValLeuGluLeuGluTrpAlaProCysSerSerAspAspProGluLeuCysAlaValThrPheValAspArgProValIleGlySerSerValThrTyrAspHisProSerLysProValGluLysArgLeuMetProProProProGlnLysAsnLysAspSerTrpLeuAspHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026699" }, { "@id": "http://reg.genome.network/allele/PA2825162112", "coordinates": [ { "allele": "G", "end": 232, "referenceAllele": "C", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_000404.4:c.171C>G" ], "proteinEffect": { "hgvs": "NP_000395.3:p.Tyr57Ter", "hgvsWellDefined": "NP_000395.3:p.Tyr57_Val677delinsSerArgValProArgPheTyrTrpLysAspArgLeuLeuLysMetLysMetAlaGlyLeuAsnAlaIleGlnThrTyrValProTrpAsnPheHisGluProTrpProGlyGlnTyrGlnPheSerGluAspHisAspValGluTyrPheLeuArgLeuAlaHisGluLeuGlyLeuLeuValIleLeuArgProGlyProTyrIleCysAlaGluTrpGluMetGlyGlyLeuProAlaTrpLeuLeuGluLysGluSerIleLeuLeuArgSerSerAspProAspTyrLeuAlaAlaValAspLysTrpLeuGlyValLeuLeuProLysMetLysProLeuLeuTyrGlnAsnGlyGlyProValIleThrValGlnValGluAsnGluTyrGlySerTyrPheAlaCysAspPheAspTyrLeuArgPheLeuGlnLysArgPheArgHisHisLeuGlyAspAspValValLeuPheThrThrAspGlyAlaHisLysThrPheLeuLysCysGlyAlaLeuGlnGlyLeuTyrThrThrValAspPheGlyThrGlySerAsnIleThrAspAlaPheLeuSerGlnArgLysCysGluProLysGlyProLeuIleAsnSerGluPheTyrThrGlyTrpLeuAspHisTrpGlyGlnProHisSerThrIleLysThrGluAlaValAlaSerSerLeuTyrAspIleLeuAlaArgGlyAlaSerValAsnLeuTyrMetPheIleGlyGlyThrAsnPheAlaTyrTrpAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValCysSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysGlyGlnValTrpIleAsnGlyPheAsnLeuGlyArgTyrTrpProAlaArgGlyProGlnLeuThrLeuPheValProGlnHisIleLeuMetThrSerAlaProAsnThrIleThrValLeuGluLeuGluTrpAlaProCysSerSerAspAspProGluLeuCysAlaValThrPheValAspArgProValIleGlySerSerValThrTyrAspHisProSerLysProValGluLysArgLeuMetProProProProGlnLysAsnLysAspSerTrpLeuAspHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662429", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000307363.10:c.171C>G" }, "RefSeq": { "hgvs": "NM_000404.4:c.171C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000306920.4:p.Tyr57Ter" }, "RefSeq": { "hgvs": "NP_000395.3:p.Tyr57Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825444412", "coordinates": [ { "allele": "G", "end": 200, "referenceAllele": "C", "start": 199 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001079811.3:c.81C>G" ], "proteinEffect": { "hgvs": "NP_001073279.2:p.Tyr27Ter", "hgvsWellDefined": "NP_001073279.2:p.Tyr27_Val647delinsSerArgValProArgPheTyrTrpLysAspArgLeuLeuLysMetLysMetAlaGlyLeuAsnAlaIleGlnThrTyrValProTrpAsnPheHisGluProTrpProGlyGlnTyrGlnPheSerGluAspHisAspValGluTyrPheLeuArgLeuAlaHisGluLeuGlyLeuLeuValIleLeuArgProGlyProTyrIleCysAlaGluTrpGluMetGlyGlyLeuProAlaTrpLeuLeuGluLysGluSerIleLeuLeuArgSerSerAspProAspTyrLeuAlaAlaValAspLysTrpLeuGlyValLeuLeuProLysMetLysProLeuLeuTyrGlnAsnGlyGlyProValIleThrValGlnValGluAsnGluTyrGlySerTyrPheAlaCysAspPheAspTyrLeuArgPheLeuGlnLysArgPheArgHisHisLeuGlyAspAspValValLeuPheThrThrAspGlyAlaHisLysThrPheLeuLysCysGlyAlaLeuGlnGlyLeuTyrThrThrValAspPheGlyThrGlySerAsnIleThrAspAlaPheLeuSerGlnArgLysCysGluProLysGlyProLeuIleAsnSerGluPheTyrThrGlyTrpLeuAspHisTrpGlyGlnProHisSerThrIleLysThrGluAlaValAlaSerSerLeuTyrAspIleLeuAlaArgGlyAlaSerValAsnLeuTyrMetPheIleGlyGlyThrAsnPheAlaTyrTrpAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValCysSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysGlyGlnValTrpIleAsnGlyPheAsnLeuGlyArgTyrTrpProAlaArgGlyProGlnLeuThrLeuPheValProGlnHisIleLeuMetThrSerAlaProAsnThrIleThrValLeuGluLeuGluTrpAlaProCysSerSerAspAspProGluLeuCysAlaValThrPheValAspArgProValIleGlySerSerValThrTyrAspHisProSerLysProValGluLysArgLeuMetProProProProGlnLysAsnLysAspSerTrpLeuAspHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711783" }, { "@id": "http://reg.genome.network/allele/PA2825793887", "coordinates": [ { "allele": "G", "end": 232, "referenceAllele": "C", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001135602.3:c.171C>G" ], "proteinEffect": { "hgvs": "NP_001129074.2:p.Tyr57Ter", "hgvsWellDefined": "NP_001129074.2:p.Tyr57_Val546delinsSerArgValProArgPheTyrTrpLysAspArgLeuLeuLysMetLysMetAlaGlyLeuAsnAlaIleGlnThrLeuProGlySerCysGlyGlnValValGlySerProSerAlaGlnAspGluAlaSerProLeuSerGluTrpArgAlaSerTyrAsnSerAlaGlySerAsnIleThrAspAlaPheLeuSerGlnArgLysCysGluProLysGlyProLeuIleAsnSerGluPheTyrThrGlyTrpLeuAspHisTrpGlyGlnProHisSerThrIleLysThrGluAlaValAlaSerSerLeuTyrAspIleLeuAlaArgGlyAlaSerValAsnLeuTyrMetPheIleGlyGlyThrAsnPheAlaTyrTrpAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValCysSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysGlyGlnValTrpIleAsnGlyPheAsnLeuGlyArgTyrTrpProAlaArgGlyProGlnLeuThrLeuPheValProGlnHisIleLeuMetThrSerAlaProAsnThrIleThrValLeuGluLeuGluTrpAlaProCysSerSerAspAspProGluLeuCysAlaValThrPheValAspArgProValIleGlySerSerValThrTyrAspHisProSerLysProValGluLysArgLeuMetProProProProGlnLysAsnLysAspSerTrpLeuAspHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712445" }, { "@id": "http://reg.genome.network/allele/PA2826964498", "coordinates": [ { "allele": "G", "end": 376, "referenceAllele": "C", "start": 375 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001317040.2:c.315C>G" ], "proteinEffect": { "hgvs": "NP_001303969.2:p.Tyr105Ter", "hgvsWellDefined": "NP_001303969.2:p.Tyr105_Val725delinsSerArgValProArgPheTyrTrpLysAspArgLeuLeuLysMetLysMetAlaGlyLeuAsnAlaIleGlnThrTyrValProTrpAsnPheHisGluProTrpProGlyGlnTyrGlnPheSerGluAspHisAspValGluTyrPheLeuArgLeuAlaHisGluLeuGlyLeuLeuValIleLeuArgProGlyProTyrIleCysAlaGluTrpGluMetGlyGlyLeuProAlaTrpLeuLeuGluLysGluSerIleLeuLeuArgSerSerAspProAspTyrLeuAlaAlaValAspLysTrpLeuGlyValLeuLeuProLysMetLysProLeuLeuTyrGlnAsnGlyGlyProValIleThrValGlnValGluAsnGluTyrGlySerTyrPheAlaCysAspPheAspTyrLeuArgPheLeuGlnLysArgPheArgHisHisLeuGlyAspAspValValLeuPheThrThrAspGlyAlaHisLysThrPheLeuLysCysGlyAlaLeuGlnGlyLeuTyrThrThrValAspPheGlyThrGlySerAsnIleThrAspAlaPheLeuSerGlnArgLysCysGluProLysGlyProLeuIleAsnSerGluPheTyrThrGlyTrpLeuAspHisTrpGlyGlnProHisSerThrIleLysThrGluAlaValAlaSerSerLeuTyrAspIleLeuAlaArgGlyAlaSerValAsnLeuTyrMetPheIleGlyGlyThrAsnPheAlaTyrTrpAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValCysSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysGlyGlnValTrpIleAsnGlyPheAsnLeuGlyArgTyrTrpProAlaArgGlyProGlnLeuThrLeuPheValProGlnHisIleLeuMetThrSerAlaProAsnThrIleThrValLeuGluLeuGluTrpAlaProCysSerSerAspAspProGluLeuCysAlaValThrPheValAspArgProValIleGlySerSerValThrTyrAspHisProSerLysProValGluLysArgLeuMetProProProProGlnLysAsnLysAspSerTrpLeuAspHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717394" }, { "@id": "http://reg.genome.network/allele/PA2573080297", "coordinates": [ { "allele": "G", "end": 232, "referenceAllele": "C", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001393580.1:c.171C>G" ], "proteinEffect": { "hgvs": "NP_001380509.1:p.Tyr57Ter", "hgvsWellDefined": "NP_001380509.1:p.Tyr57_Gly588delinsSerArgValProArgPheTyrTrpLysAspArgLeuLeuLysMetLysMetAlaGlyLeuAsnAlaIleGlnThrTyrValProTrpAsnPheHisGluProTrpProGlyGlnTyrGlnPheSerGluAspHisAspValGluTyrPheLeuArgLeuAlaHisGluLeuGlyLeuLeuValIleLeuArgProGlyProTyrIleCysAlaGluTrpGluMetGlyGlyLeuProAlaTrpLeuLeuGluLysGluSerIleLeuLeuArgSerSerAspProAspTyrLeuAlaAlaValAspLysTrpLeuGlyValLeuLeuProLysMetLysProLeuLeuTyrGlnAsnGlyGlyProValIleThrValGlnValGluAsnGluTyrGlySerTyrPheAlaCysAspPheAspTyrLeuArgPheLeuGlnLysArgPheArgHisHisLeuGlyAspAspValValLeuPheThrThrAspGlyAlaHisLysThrPheLeuLysCysGlyAlaLeuGlnGlyLeuTyrThrThrValAspPheGlyThrGlySerAsnIleThrAspAlaPheLeuSerGlnArgLysCysGluProLysGlyProLeuIleAsnSerGluPheTyrThrGlyTrpLeuAspHisTrpGlyGlnProHisSerThrIleLysThrGluAlaValAlaSerSerLeuTyrAspIleLeuAlaArgGlyAlaSerValAsnLeuTyrMetPheIleGlyGlyThrAsnPheAlaTyrTrpAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValCysSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysAspGluGlyAspGlySerSerPheProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS726736" } ], "type": "nucleotide" }